Peutz-Jeghers syndrome
PJS
Peutz-Jeghers syndrome (PJS) is a rare disorder in which growths called polyps form in the intestines. A person with PJS has a high risk for developing certain cancers.
Causes
It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 50,000 to 200,000 people.
PJS is caused by a mutation in the gene called STK11 (previously known as LKB1). There are two ways that PJS can occur:
- Familial PJS is inherited in families as an autosomal dominant trait. That means if one of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease.
- Spontaneous PJS is not inherited from a parent. The gene mutation occurs on its own. Once someone carries the genetic change, their children have a 50% chance of inheriting it.
Symptoms
Symptoms of PJS are:
- Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin
- Clubbed fingers or toes
- Cramping pain in the belly area
- Dark freckles on and around the lips of a child
- Blood in the stool that can be seen with the naked eye (sometimes)
- Vomiting
Exams and Tests
The polyps develop mainly in the small intestine, but also in the large intestine (colon). An exam of the colon called a colonoscopy will show colon polyps. The small intestine is evaluated in two ways. One is a barium x-ray (small bowel series). The other is a capsule endoscopy, in which a small camera is swallowed and then takes many pictures as it travels through the small intestine.
Additional exams may show:
- Part of the intestine folded in on itself (intussusception)
- Benign (noncancerous) tumors in the nose, airways, ureters, or bladder
Laboratory tests may include:
- Complete blood count (CBC) -- may reveal anemia
- Genetic testing
- Stool occult blood, to look for blood in stool
- Total serum iron and iron-binding capacity (TIBC) -- may indicate iron-deficiency anemia
Treatment
Surgery may be needed to remove polyps that cause long-term problems. Iron supplements help counteract blood loss.
People with this condition should be monitored by a health care provider and checked regularly for cancerous polyp changes.
Support Groups
More information and support for people with PJS and their families can be found at:
- National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/peutz-jeghers-syndrome
- Genetic and Rare Diseases Information Center (GARD) -- rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome
Outlook (Prognosis)
There may be a high risk for these polyps becoming cancerous. Some studies link PJS with cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.
Possible Complications
Complications may include:
- Intussusception
- Polyps that lead to cancer
- Ovarian cysts
- A type of ovarian tumors called sex cord tumors
When to Contact a Medical Professional
Contact your provider for an appointment if you or your child has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.
Prevention
Genetic counseling is recommended if you are planning to have children and have a family history of this condition.
References
Garber JJ, Chung DC. Colonic polyps and polyposis syndromes. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 126.
McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1266/. Updated September 2, 2021. Accessed April 18, 2024.
Zahler SG, Kabbany MN, Murray KF. Tumors of the digestive tract. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 393.
Review Date: 12/31/2023
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